Global Variome shared LOVD

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Phenotype #0000242277 Individual ID 00265769 Associated disease MYOP Phenotype details 4y-proximal muscle weakness; slowly progressive proximal weakness; calf hypertrophy; atrophy of shoulder girdle; CK 56 U/L; EMG not myopathic; 13y-biopsy quadriceps; severe fatty replacement; increased number of internalized nuclei in the remaining muscle fibers; 19y-FVC 0.80; 15y-ECG normal; fatigue Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-24 18:30:17 +01:00 (CET) Date last edited N/A

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